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A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase
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- Sun, Song, 1982- (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Univ Toronto, Donnelly Ctr, Toronto, ON M5S 3E1, Canada;Univ Toronto, Dept Mol Genet, Toronto, ON M5S 3E1, Canada;Univ Toronto, Dept Comp Sci, Toronto, ON M5S 3E1, Canada;Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada;
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- Weile, Jochen (author)
- Univ Toronto, Donnelly Ctr, Toronto, ON M5S 3E1, Canada;Univ Toronto, Dept Mol Genet, Toronto, ON M5S 3E1, Canada;Univ Toronto, Dept Comp Sci, Toronto, ON M5S 3E1, Canada;Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada
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- Verby, Marta (author)
- Univ Toronto, Donnelly Ctr, Toronto, ON M5S 3E1, Canada;Univ Toronto, Dept Mol Genet, Toronto, ON M5S 3E1, Canada;Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada
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- (creator_code:org_t)
- 2020-01-30
- 2020
- English.
- In: Genome Medicine. - : BMC. - 1756-994X. ; 12:1
- Journal article (peer-reviewed)
Abstract
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- Background For the majority of rare clinical missense variants, pathogenicity status cannot currently be classified. Classical homocystinuria, characterized by elevated homocysteine in plasma and urine, is caused by variants in the cystathionine beta-synthase (CBS) gene, most of which are rare. With early detection, existing therapies are highly effective. Methods Damaging CBS variants can be detected based on their failure to restore growth in yeast cells lacking the yeast ortholog CYS4. This assay has only been applied reactively, after first observing a variant in patients. Using saturation codon-mutagenesis, en masse growth selection, and sequencing, we generated a comprehensive, proactive map of CBS missense variant function. Results Our CBS variant effect map far exceeds the performance of computational predictors of disease variants. Map scores correlated strongly with both disease severity (Spearman's rho = 0.9) and human clinical response to vitamin B-6 (rho = 0.93). Conclusions We demonstrate that highly multiplexed cell-based assays can yield proactive maps of variant function and patient response to therapy, even for rare variants not previously seen in the clinic.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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- Weile, Jochen
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